Varaico: Literature-Extracted Genetic Variants

Gene:GDF1
Variant:p.I105T

GDF1

94 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGF_betaaa 266–371UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001492.6
p.I105T
c.314T>C
Surrounding Variants
1 paper
NM_001492.6
p.V97_G99delFs
c.291_295del5
1 paper
NM_001492.6
p.V97fs
c.289_290fs
1 paper
NM_001492.6
p.V97insFs
c.289dupG
1 paper
NM_001492.6
p.G84_H91del8
c.250_272del24
1 paper
NM_001492.6
p.Q88*
c.262C>T
1 paper
NM_001492.6
p.G84E
c.251G>A
1 paper
NM_001492.6
p.R79Q
c.236G>A
3 papers
NM_001492.6
p.R68H
c.203G>A
1 paper
NM_001492.6
p.R64C
c.190C>T
1 paper
NM_001492.6
p.P59T
c.175C>A
1 paper
NM_001492.6
p.P53delFs
c.159delG
1 paper
NM_001492.6
p.P53P
c.159C>T
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